患有真性瘢痕疙瘩的兄弟姐妹中的外胚层发育不良综合征、先天性贲门失弛缓症手术后的食管狭窄以及肾动脉狭窄导致的肾血管性高血压。

Ectodermal dysplasia syndrome in siblings with true keloids, stenosis of the esophagus after operations for congenital achalasia and renovascular hypertension due to stenosis of renal artery.

作者信息

Shimohashi N, Furukawa M, Yamaguchi H, Hashimoto T, Umeda F, Nawata H

机构信息

Third Department of Internal Medicine, Kyushu University, Fukuoka.

出版信息

Intern Med. 1995 May;34(5):406-9. doi: 10.2169/internalmedicine.34.406.

DOI:10.2169/internalmedicine.34.406

PMID:7647411

Abstract

Ectodermal dysplasia syndrome (EDS) is a rare hereditary disease, with symptoms brought about by dysplasia of ectodermal tissue (such as skin, teeth, nails, and hair). This report details the cases of two siblings (41 and 43 year old sisters) with autosomal recessive and hydrotic EDS complicated by esophageal achalasia, postoperative stenosis of esophagus, true keloids, renovascular hypertension, incomplete malrotation of the bowel, and demyelination of the brain.

摘要

外胚层发育不良综合征（EDS）是一种罕见的遗传性疾病，由外胚层组织（如皮肤、牙齿、指甲和毛发）发育异常引起症状。本报告详细介绍了两名患有常染色体隐性和出汗型EDS的姐妹（分别为41岁和43岁）的病例，她们还并发了食管失弛缓症、食管术后狭窄、真性瘢痕疙瘩、肾血管性高血压、肠旋转不良不完全以及脑脱髓鞘。